Acute myeloid leukemia (AML) is a group of clonal diseases, resulting from two classes of mutation. Investigation for additional abnormalities associated with a well-recognized subtype, core-binding factor AML (CBF-AML) can provide further understanding and discrimination to this special group of leukemia. In order to better define genetic alterations in CBF-AML and identify possible cooperating lesions, a single-nucleotide polymorphism-array (SNP-array) analysis was performed, combined to KIT mutation screening, in a set of cases. Validation of SNP-array results was done by array comparative genomic hybridization and FISH. Fifteen cases were analyzed. Three cases had microscopic lesions better delineated by arrays. One case had +22 not identified by arrays. Submicroscopic abnormalities were mostly non-recurrent between samples. Of relevance, four regions were more frequently affected: 4q28, 9p11, 16q22.1, and 16q23. One case had an uncovered unbalanced inv(16) due to submicroscopic deletion of 5´MYH11 and 3´CBFB. Telomeric and large copy number neutral loss of heterozygosity (CNN-LOH) regions (>25 Mb), likely representing uniparental disomy, were detected in four out of fifteen cases. Only three cases had mutation on KIT gene, enhancing the role of abnormalities by SNP-array as presumptive cooperating alterations. Molecular karyotyping can add valuable information to metaphase karyotype analysis, emerging as an important tool to uncover and characterize microscopic, submicroscopic genomic alterations, and CNN-LOH events in the search for cooperating lesions.
Improved outcome of acute myeloid leukemia (AML) depends on the better differentiation of subtypes to predict treatment response and the identification of new target for treatment. In this study, array comparative genomic hybridization (aCGH) was used to distinguish eight cases of AML cases. Validation was performed by FISH and quantitative genomic PCR. The aCGH revealed new large and small recurrent genomic imbalances, such as gains of 1p36, 10q26, 11p15, 20q13, 22q23, harboring many proto-oncogenes. These results better define genetically the studied cases and could be used to understand the multiple phenomena involved in leukemogenesis.
Background: Mammographic screening promotes early detection in the asymptomatic phase. Due to economic and logistical limitations in Brazil, mammographic screening is not available to all individuals, which is expressed in the high number of patients diagnosed at an elevated stage. There is a lack of knowledge related to the real barriers regarding the challenges to perform mammography in the riverside rural population in Amazônia. Objective: To evaluate the factors related to the limitation of access, knowledge and information on breast cancer of the riverside population in Amazonia. Methods: Ethics Committee approval (1401/2017). A prospective, transversal, case-control study carried out in the urban and riverside area of the city of Porto Velho/Rondônia, in women aged 40-69 years. A mammography examination was offered, and a questionnaire was carried out, evaluating factors related to non-mammography adherence. Descriptive statistics were performed. To compare the groups, the chi-square and the Mann-Whitney test were performed. Results: The convenience sample consisted of 112 women who participated in the study, being 46 of riverside population (case), in a ratio of 1:1.4. Reported reasons for non-compliance were absence of symptoms, difficulty in performing the test, nonmedical request, fear of pain, lack of knowledge of the age of the test. Comparing the characteristics of each group, these did not differ in relation to race (p=1.00), age (p=0.17). Evaluating health care, patients in the riverside region had a higher frequency of never having undergone MMG examination in their lifetime (p=0.04), lack of knowledge about the regularity of MMG (p=0.01). Conclusions: Patients in the riverside population presented a higher social vulnerability, associated with a lower rate of MMG testing in life, but had similar knowledge about self-examination, presenting regular medical guidance to MMG. The Mobile Prevention Unit minimized the differences between the groups.
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